ATP1A3symposium2019

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General information Programme & Speakers

Programme & Speakers

Draft outline of symposium programme (click to open/close)

The ATP1A3 Symposium in Disease 2019


Moving Towards the Light


3-4 October 2019, Grand Hotel Reykjavík, Iceland


Wednesday 2 October 2019

16:00 - 18:00Parents meeting                                  
18:00 - 20:00
Registration and welcome reception at the hotel

Thursday 3 October 2019

Programme from approx. 8:30 am - 5 pm

8:30 amWelcome and remarks by Sigurður Jóhannesson
8:45 amOPENING REMARKS by Guðni Th. Jóhannesson, the President of Iceland (if his schedule permits)
Session 1Examples of how research move towards understanding of disease and progress towards a cure
Moderator: Hendrik Rosewich and Mohamad Mikati
8:55 - 9:00 Introduction by chair Hendrik Rosewich
9:00 - 9:30

David Goldstein (invited speaker): "The long road toward precision medicine in neurological diseases" 

9:30 - 9:55 Peter Vangheluwe (invited speaker): "A screening platform for P-type ATPase drug discovery"
9:55 - 10:20Mohamad Mikati (invited speaker): "Mechanisms of AHC: From Molecules to Networks"
10:20 - 10:50 Coffee break and free poster time
Session 2 Current knowledge and treatment of ATP1A3 diseases   

Moderators: Hendrik Rosewich and David Goldstein

10:50 - 10:55 Introduction by chair Hendrik Rosewich
10:55 - 11:20 Allison Brashear (invited speaker): "RDP phenotypes: The Tip of the Iceberg?"
11:20 - 11:45 Mohamad Mikati (invited speaker): "Therapy of AHC: State of the Art"
11:45 - 11:55Eleni Panagiotakaki (selected oral presentation): "Brain MRI abnormalities in a French cohort of 22 ATP1A3 – positive AHC patients"
11:55 - 12:05John P Snow (selected oral presentation): "An iPSC-Derived Model to Investigate Neural Lineage Contributions to Alternating Hemiplegia of Childhood"
12:05 - 12:15Round the table discussion and questions for the box    
12:20 - 13:15 Lunch
Session 3
 New coming treatment of ATP1A3 diseases   

Moderators; Sigurður  Hólmar Jóhannesson and Karin Lykke-Hartmann

13:15 - 13:20 Introduction by chair Sigurður Hólmar Jóhannesson
13:20 - 13:45 Steven Gray (invited speaker): "Steps Toward Gene Therapy for ATP1A3"
13:45 - 14:10 Alfred L. George & Arn van den Maagdenberg (invited speaker & organizing committee member): “SCN2A: an AHC gene?” 
14:10 - 14:20Evgeny E. Akkuratov (selected oral presentation): "Abnormal gait control in a rapid-onset dystonia-parkinsonism mice mode"
14:20 - 14:30

Agathe Roubertie (selected oral presentation): "Non-paroxysmal movement disorders in patients with Alternating Hemiplegia of Childhood: “soft” and “stiff” "

14:30 - 14:40 Round the table discussion and questions for the box
14:40 - 15:20 Coffee break and poster session
Session 4 Quality of life and education

Moderators: Sigurður Hólmar Jóhannesson and Kevin Ess

15:20 - 15:25
 Introduction by chair Sigurður Hólmar Jóhannesson
15:25 - 15:45 Hendrik Rosewich (organising committee member) - lecture title to be announced
15:45 - 16:05 Yr Sigurdardottir: "I met a zebra" - A talk about the difficulty in diagnosing rare diseases and the challenges of being the least knowledgeble person in the room
16:05 - 16:20 Laura Darick Heimgartner: "How do we manage this - AHC and the Quality of Life" - It's our story of where we began with AHC, and how we find our Hope and Relief in the daily struggles of AHC
16:45 - 18:45

Tour to the Perlan Museum (entrance and bus transport included in reg. fee)

GROUP PHOTO at the museum
20:00 - 22:30SYMPOSIUM DINNER at the hotel (your symposium badge will serve as entrance)
21:30 - 21:50Keynote Lecture by Helga Birgisdottir: "We Can Do It!"
22:00 - 22:15Entertainment by singer Særún Harðardóttir
22:30 -Social interactions

Friday 4 October 2019

Programme from 8:30 - 15:00

Session 5
 Molecular mechanisms of Na+K+-ATPases     

Moderators: Hanne Poulsen and Poul Nissen

8:30 - 8:35 Introduction by chair Hanne Poulsen
8:35 - 9:00 Poul Nissen (organising committee member): "Electron microscopy studies of membrane proteins - towards structures of ATP1A3"
9:00 - 9:25

Marisol Sampedro Castaneda (invited speaker): "ATP1A3 phosphorylation by GAK kinases: a role in disease?" 

9:25 - 9:35 Elena Arystarkhova (selected oral presentation): "Misfolding mutations in ATP1A3: cell biological approaches to overcome impaired biosynthesis"
9:35 - 9:45 Lorenzo Antonini (selected oral presentation): "ATP1A3 wild type and mutated isoforms molecular dynamics simulations in a lipid membrane bilayer. Insights on protein structure and ion interactions"
9:45 - 10:30 Coffee break and poster tours
Session 6 Towards new therapies  

Moderators: Karin Lykke-Hartmann and Arn Van den Maagdenberg

10:30 - 10:35 Introduction by chair Karin Lykke-Hartmann
10:35 - 11:00 Guangping Gao (invited speaker): "Gene Therapy for CNS disorders – history, principles, challenges and approaches"
11:00 - 11:25Francesco Danilo Tiziano (invited speaker): "Human neuroblastoma model of AHC: towards a medium throughput screening of candidate therapeutic compounds"
11:25 - 11:35 Alfred L. George (selected oral presentation): "Effects of Flunarizine on iPSC-derived Neurons from AHC Patients Exhibiting Divergent Clinical Responses"
11:35 - 11:45 Catherine Brownstein (selected oral presentation): "ATP1A3 variants in a Sudden Infant Death Syndrome cohort"
11:45 - 12:00 Round the table discussion and questions for the box
12:00 - 13:00Lunch
Session 7
 deCODE Genetics  
13:00 - 13:05 Introduction by Sigurður Jóhannesson
13:05 - 13:45

Keynote Lecture by Hreinn Stefánsson, Head of the Central Nervous System Division at the company deCODE genetics: "From gene discovery to therapeutic advances" 

13:45 - 14:00 Short break
Session 8 Moving towards the light

By organising committee members:

Karin Lykke-Hartmann
Hanne Poulsen
Poul Nissen
Arn van den Maagdenberg
Hendrik Rosewich
Sigurður Hólmar Jóhannesson

Note the dates

Registration and payment deadlines

Early birdApril - 31 May 2019
Standard1 June - 1 August 2019

Abstract submission deadline for poster & oral presentation

Abstract subm.April - 1 August

Confirmed Invited Speakers

Further confirmed invited speakers will be announced soon

Confirmed Invited Speaker

HREINN STEFÁNSSON

Head of Central Nervous System Division at deCODE genetics

Hreinn Stefánsson, PhD, joined deCODE genetics in 1996 and has led the CNS division since 2000. He received his PhD in biochemistry from Lund University, Sweden and a BSc in biology from University of Iceland. Hreinn has published several articles on the genetics of common/complex diseases including Schizophrenia and Alzheimer’s. Together with his colleagues and collaborators he has contributed to better understanding of the impact conferred by neuropsychiatric copy number variants (CNVs) on psychiatric disorders and cognition.

Confirmed Invited Speaker

DAVID B. GOLDSTEIN

Professor of Medical and Surgical Research in Genetics and Development, Institute for Genomic Medicine and Neurology, Columbia University, New York

David B. Goldstein and his research group focustheir research on many aspects of human genetic variation including human genetic diversity, the genetics of disease, and pharmacogenetics. They have been responsible for a number of well-known discoveries including the gene responsible for Alternating Hemiplegia of Childhood and the role of the IL28B gene in treatment response to Hepatitis C infection, discovered three novel epilepsy genes to date, and also been involved in some of the early applications of next-generation sequencing in the study of undiagnosed diseases. In addition,they have developed a genome-wide scoring system ranking human genes in terms of their intolerance to standing functional genetic variation in the human population.

Confirmed Invited Speaker

PETER VANGHELUWE

Associate Professor and Head of the Laboratory of Cellular Transport Systems in the Dept. Cellular and Molecular Medicine at the Katholieke Universiteit Leuven, Belgium

Dr. Peter Vangheluwe, PhD, and his research group study the cellular and lysosomal transport systems that are implicated in disease. Their research fuels a drug discovery pipeline for heart failure and Parkinson's disease, which runs in collaboration with the Center for Drug Design and Discovery, as well as Sanofi.    

Confirmed Invited Speaker

LAUFEY ÝR SIGURDARDÓTTIR

Child Neurologist and Epileptologist, University Hospital of Iceland, Reykjavik, Iceland

Confirmed Invited Speaker

ALLISON BRASHEAR

School of Medicine Dean, UC Davis Health, California 

Dr. Allison Brashear, MD, MBA is the principal clinician to describe a unique genetic form of dystonia-parkinsonism, Rapid-Onset Dystonia-Parkinsonism (RDP). Her group reported the genetic mechanism responsible for RDP (mutations in the Na/K ATPase alpha 3 subunit) in 2004. Since then, her group has studied these mutations in the ATP1A3 gene in more depth. Furthermore, Dr. Allison Brashear is the lead principal investigator in many multi-center trials for the treatment of cervical dystonia and spasticity.

Confirmed Invited Speaker

MOHAMAD MIKATI

Wilburt C. Davison Professor of Pediatrics, Professor of Neurobiology, and Chief of the Division of Pediatric Neurology, Duke Institute for Brain Sciences, Durham, North Carolina

Dr. Mohamad Mikati and his research group are focused on characterization and therapy of pediatric epilepsy and neurology syndromes, and they have described several new pediatric neurological entities, developing novel therapeutic strategies for epilepsy and related disorders particularly Alternating Hemiplegia of Childhood, and applying cutting edge genetic and Magnetic Resonance Imaging techniques to drug resistant pediatric epilepsy.

Confirmed Invited Speaker

MARISOL SAMPEDRO CASTANEDA

Postdoctoral researcher, Kinases and Brain Development Laboratory, The Francis Crick Institute, London, United Kingdom

Dr. Marisol Sampedro Castañeda is a postdoctoral researcher with an interest in ion channels and transporters in cell physiology. Her recent work has explored the functional properties of ion channel/pump mutations identified in neurological and neuromuscular disease patients, as well as the role of disease-linked kinases in the regulation of these membrane proteins.

Confirmed Invited Speaker

FRANCESCO DANILLO TIZIANO

Associate professor, Università Cattolica del Sacro Cuore, Milano, Italy

Confirmed Invited Speaker

LAURA HEIMGARTNER

Mother to the boy named Dax, who has AHC

Opens the symposium (if his schedule permits)

GUDNI TH. JOHANNESSON

The President of Iceland 

Confirmed Invited Speaker

STEVEN GRAY

Associate Professor at the Depts. Pediatrics; Eugene McDermott Center for Human Growth and Development; Molecular Biology; Neurology and Neurotherapeutics, as well as Director of the UTSW Viral Vector Facility, at the University of Texas Southwestern Medical Center, Dallas

Dr. Stefen Gray’s core expertise is in AAV gene therapy vector engineering, followed by optimizing approaches to deliver a gene to the nervous system. His major focus is in AAV vector development to develop vectors tailored to serve specific clinical and research applications involving the nervous system. 

Confirmed Invited Speaker

GUANGPING GAO

Professor of Microbiology & Physiological Systems, and Director of Horae Gene Therapy Center and Viral Vector Core, at the University of Massachusetts Medical School, Worcester, Massachusetts 

Dr. Guangping Gao, Ph.D is an internationally recognized gene therapy researcher who has played a key role in the discovery and characterization of new family of adeno-associated virus (AAV) serotypes, which was instrumental in reviving the gene therapy field, hugely impacting many currently untreatable human diseases.

Confirmed Invited Speaker

POUL NISSEN

Professor at Dept. Molecular Biology and Genetics, and Director of The Danish Research Institute of Translational Neuroscience - DANDRITE, Aarhus University

Prof. Poul Nissen and his research group investigate the molecular mechanisms of membrane transport processes and biomembrane structure of transporters in the brain. Their main focus is to investigate the membrane transporters involved with neurological and psychiatric disorders, with P-type ATPases such as the Na+, K+-ATPase of particular interest.

Confirmed Invited Speaker

HELGA BIRGISDÓTTIR

Called Gegga
Artist, CEO and Creator of SMILER

Gegga has a broad spectrum of education and experience within health care, personal development and art. Gegga has worked at Landspítalinn, the National University Hospital of Iceland both as a nurse and a midwife for more than 30 years, including the department for mental health for 6 years. She earned her Bachelor of Arts degree in 2001, and learned acupuncture for drug and alcohol detox. Over the last 10 years Gegga has been teaching a variety of workshops about positivity, self-love, how to follow ones dreams, and how to release stress. She is a certified Neuro Linguistic Programming (NLP) practitioner and coach aiming to empower people to heal from trauma and embrace their internal gifts.

Revised 16.09.2025
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Karen Bech-Pedersen